Cernunnos defect in an Iranian patient with T− B+ NK + severe combined immunodeficiency: A case report and review of the literature
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DOI: 10.1002/mgg3.1990
Abstract: Defective Cernunnos gene in nonhomologous end‐joining (NHEJ) pathway of the DNA repair is responsible for radiosensitive severe combined immunodeficiency (SCID). Herein, presented a new patient with Cernunnos deficiency and summarized the clinical, immunological, and molecular… read more here.
Keywords: combined immunodeficiency; defect iranian; cernunnos defect; iranian patient ... See more keywords
A Novel Variant in Iranian Patient with Cystinuria: A Case Report
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DOI: 10.18502/ijph.v50i9.7063
Abstract: Cystinuria is an autosomal recessive disorder in which the renal reabsorption of cystine, arginine, lysine and ornithine are disturbed. The two genes, the pathogenic forms of which are responsible for the disorder, are SLC7A9 and… read more here.
Keywords: iranian patient; patient cystinuria; novel variant; cystinuria case ... See more keywords